Whole exome sequencing (WES) revealed that both patients 1 and 2 harbor a novel homozygous missense variant in <i>ALDH7A1</i> (NM_001202404: exon 12: c.1168G>C; (p.Gly390Arg)).<h4>Conclusion</h4>The present study reports a novel <i>ALDH7A1</i> variant causing PDE and highlights the associated developmental delay and intellectual disability, despite early seizure control treatment. This evidence concerns the gene ALDH7A1 and Global developmental delay.